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    C3orf49 chromosome 3 open reading frame 49 [ Homo sapiens (human) ]

    Gene ID: 132200, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C3orf49provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 49provided by HGNC
    Primary source
    HGNC:HGNC:25190
    See related
    Ensembl:ENSG00000163632 AllianceGenome:HGNC:25190
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf49 in Genome Data Viewer
    Location:
    3p14.2-p14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63779707..63848636)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63823336..63892263)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63804975..63834312)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1387 Neighboring gene sentan, cilia apical structure protein Neighboring gene uncharacterized LOC105377119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:63718649-63719284 Neighboring gene cadherin related family member 18, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14500 Neighboring gene THO complex subunit 7 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ataxin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14501 Neighboring gene SCA7/ATXN7 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Gene network analysis in a pediatric cohort identifies novel lung function genes. Ong BA, et al. PLoS One, 2013. PMID 24023788, Free PMC Article
    2. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Fu GK, et al. Genomics, 2004 Jul. PMID 15203218
    3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17310

    General protein information

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    Preferred Names
    putative uncharacterized protein C3orf49

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001355236.2 → NP_001342165.1  putative uncharacterized protein C3orf49

      Status: VALIDATED

      Source sequence(s)
      AC104162, BC015210
      Consensus CDS
      CCDS87102.1
      UniProtKB/Swiss-Prot
      Q96BT1
      Related
      ENSP00000295896.8, ENST00000295896.13

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      63779707..63848636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447470.1 → XP_047303426.1  putative uncharacterized protein C3orf49 isoform X2

    2. XM_024453353.2 → XP_024309121.1  putative uncharacterized protein C3orf49 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y7G4
      Related
      ENSP00000495997.1, ENST00000647022.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      63823336..63892263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345289.1 → XP_054201264.1  putative uncharacterized protein C3orf49 isoform X2

    2. XM_054345288.1 → XP_054201263.1  putative uncharacterized protein C3orf49 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y7G4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BT1.1 GenPept UniProtKB/Swiss-Prot:Q96BT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials